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Figure 3 | Journal of Translational Medicine

Figure 3

From: An intronic SNP in the thyroid hormone receptor β gene is associated with pituitary cell-specific over-expression of a mutant thyroid hormone receptor β2 (R338W) in the index case of pituitary-selective resistance to thyroid hormone

Figure 3

Modulatory effects of SNPs on the expression of the TR β2 promoter-luciferase-ICR reporter construct. The SNPs detected in the index case of PRTH were introduced in the reporter gene construct by site-directed mutagenesis. As compared to the "wild type" sequence, rs2596623T gave a significant 30% increase in transcriptional activity. A similar increase in transcriptional activity was observed when the cells were transfected with the rs2596623T/rs2596622C naturally occurring haplotype. Transfections of the rs2596622C or rs17194828A SNPs alone did not result in a significant change in the transcriptional activity of the reporter gene construct. No difference in transcriptional activity was observed after transfection with SNPs rs6798561A and rs77624520C (data not shown) (see text for details). The results were confirmed by three independent preparations of reporter plasmids that were tested at least thrice with triplicate points determined for each assay * = significant on Tukey's post-hoc analysis.

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Journal of Translational Medicine

ISSN: 1479-5876

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